The SAPHO Syndrome and Genetics – discoveries in Need of Replication
Frank A. Wollheim.
SAPHO and its relative CMRO are uncommon but not rare chronic conditions with unknown etiology. Environmental
factors, perhaps related to microorganisms, may be important triggers, but there is no support for a septic nature.
The monogenic animal models called cmo and Lupo with autosomal recessive transmission have not been replicated
in human diease. Interesting but unconfirmed studies indicate impaired p53 formation, increased IL-10 production and decreased
capacity to mount ROS responses in different patients whith SAPHO. There is more evidence supporting an
autoinflammatory than an autoimmune pathogenesis of SAPHO. Susceptibility genes on chromosomes 1 and 18 need to
be confirmed. More studies in larger numbers of patients are needed to confirm the often anecdotal observations reviewed
here. It is hoped that this review may stimulate such work.
Keywords: SAPHO, CMRO, Genetics, p53, ROS.
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